Product Details

SNP ID
rs141488153
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52171409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTCCAGCCGCCTTACTCTGAGA[C/T]CTCCGACTCCTGCGAGAAGTACTTC
Phenotype
MIM: 611161
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRT80 PubMed Links

Gene Details

Gene
KRT80
Gene Name
keratin 80
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001081492.1 1481 UTR 3 NP_001074961.1
NM_182507.2 1481 Missense Mutation ATC,GTC I450V NP_872313.2
XM_005268676.3 1481 Missense Mutation ATC,GTC I485V XP_005268733.1

View Full Product Details